Variant information


Systematic Name
(NM_004992.3:)		 c.898_901del
Protein name
(NP_004983)		 p.Val300fs
Alternate systematic Name
(NM_001110792.1:)		 c.934_937del
Alternate Protein name
(NP_001104262)		 p.(Val312Serfs*20)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296378_153296381del
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.898_901del p.Val300fs Female Rett syndrome-classical 2890 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 View details